Craniofacial Dysostosis

This report describes the variability in the mechanism of upper airway collapse seen in children with obstructive apnea secondary to craniofacial anomalies. Emphasis is on the nasopharyngoscopic observation of the upper airway and the accurate assessment of the site and mechanism of obstruction in order to prescribe the appropriate treatment.

Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogenetic considerations are noted.

Apert's syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, cranial base and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted.

This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease.Observations made in this family and from previous reports in the literature, we feel there is substantial reason to re-evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.

We reviewed 42 cases of Crouzon's syndrome. There were 16 cases with ventricular dilation. We believe that shunt should be inserted after fronto-orbital advancement if there are persistent signs of raised intracranial pressure. However, in cases presenting with severe ventricular dilation and papilloedema, a shunt is inserted prior to fronto-orbital advancement. Medium- or high-pressure systems should be used.

Crouzon syndrome is an autosomal dominant disorder with variable expressivity, characterized by skull and facial malformations. Such alterations vary from case to case. Management requires multidisciplinary approach. Two cases of two sisters affected by Crouzon syndrome are described. Treatment was performed by orthopedic and orthodontic devices without surgery. Good esthetics and functional results were obtained. Five-year follow-up records are presented.

Apert's syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, cranial base and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted.

Patients with syndromic craniosynostosis are at risk for elevated intracranial pressure because of various physiologic and anatomic abnormalities. The aims of this study were to determine the prevalence of papilledema in syndromic craniosynostosis, to evaluate the results of the treatment, and to examine the risk factors. This is a retrospective study on 84 patients with Apert, Crouzon, or Pfeiffer syndrome. Papilledema was defined as blurring of the margins of the optic disk. The association between clinical symptoms, beaten-copper pattern on skull radiograph, ventricular dilatation on computed tomography scan, and papilledema was assessed. Papilledema was present in 51% of the patients. No relation between specific clinical symptoms and papilledema was found. The significant associations were complex craniosynostosis, exorbitism, and ventricular dilatation. The prevalence of papilledema in patients with Apert, Crouzon, or Pfeiffer syndrome is high, not only before cranial decompre...

The Antley-Bixler syndrome (ABS) is characterized by craniosynostosis, radiohumeral synostosis, and femoral bowing. Other findings include a trapezoid-shaped head, deformed ears, severe midface hypoplasia, choanal atresiaor stenosis, and long bone fractures. Most ABS cases have died in the firstmonths of life from respiratory complications. The poor prognosis in this condition makes counseling difficult and early termination of pregnancy a consideration. The medical and surgical management information presented herecan be used as a guide for counseling parents in the future.We report on a new patient with ABS who now at age 3 yr, has been followed by the medical staff of Riley Children's Hospital since birth. She has had successful medical and surgical management.Although the multisynostoses seen in this disorder is undoubtedly related to the soft tissue malformations such as choanal stenosis and midface hypoplasia, the cause remains unknown. The literature is also reviewed in this condition.

OBJECT Patients with Crouzon syndrome (CS) are at risk for developing raised intracranial pressure (ICP), which has the potential to impair both vision and neurocognitive development. For this reason, some experts recommend early prophylactic cranial vault expansion on the basis that if ICP is not currently raised, it is likely to become so. The aim of this study was to examine the justification for such a policy. This was done by analyzing the incidence, causes, and subsequent risk of recurrence in a series of patients with CS, in whom raised ICP was treated only after it had been diagnosed. METHODS This study was a retrospective review of the medical records and imaging data of patients with a clinical diagnosis of CS. RESULTS There were 49 patients in the study, of whom 30 (61.2%) developed at least 1 episode of raised ICP. First episodes occurred at an average age of 1.42 years and were attributable to craniocerebral disproportion/venous hypertension (19 patients), hydrocephalus...

Craniosynostoses are premature ossifications of cranial sutures. They occur isolated and syndromic. Syndromic craniosynostoses are mainly associated with mutations of the Fibroblast Growth Factor Receptors (FGFR) 1 - 3. This paper gives an overview of the etiology and pathophysiology of isolated and syndromic craniosynostoses and discusses the molecular genetic results in 21 index cases (19 seemingly isolated craniosynostoses, 2 cases with a clinical diagnosis of Crouzon's syndrome). Mutation analysis in exons of the FGFR 1 - 3 known to be preferentially affected in craniosynostoses was performed on DNA samples from peripheral blood and bone specimen excised at the time of surgery to correct the craniosynostosis. In a girl with seemingly isolated plagiocephaly we identified a P250L (749C-->T) mutation in FGFR3. Her mother showed minor signs of craniosynostosis when the family was re-evaluated. She was shown to carry the same mutation. In two patients with suspected Crouzon's syndrome 2 different mutations were detected at the same nucleotide (1025G-->A or C) and confirmed the clinical diagnosis. No mutation was found in 18/19 seemingly isolated craniosynostosis cases. In contrast to syndromic forms isolated craniosynostoses are rarely associated with mutations in FGFR. The affection of further family members is a strong indication of involvement of FGFR mutations. Because of variable expressivity, parents should be examined carefully in isolated craniosynostoses to identify minor signs.